CLINICAL AND GENETIC FEATURES OF A COUPLES WITH REPRODUCTIVE LOSSES IN THE ANAMNESIS, CAUSED BY CHROMOSOMAL ABNOMALITIES IN EMBRYOS/FETUS
About the author:
Lozynska M. R., Prokopchuk N. M., Mikula M. I., Korinets Y. M., Oleksiuk O. B.
Type of article:
The purpose of the study. To investigate the relationship of gender, age, karyotype, chronic diseases of spouses with reproductive losses, caused by different chromosomal abnormalities in abortions/fetuses. Object and methods. Clinical examination and analysis of medical records of 45 couples with reproductive losses were carried out. Karyotyping of 90 blood samples of the patients with reproductive losses and analysis of spectrum of chromosomal abnormalities in embryos/fetuses were performed. Results. The mean age of the females was 31.22±0.92 years (21-45 years) and the mean age of the males was 33.22±0.91 years (23-48 years). The age of 33.3% (15/45) of women with reproductive losses who have had chromosomal abnormalities in embryos/fetuses were 35 years or older. Eleven percent of the patients had recurrent losses that occured more often over 12 weeks. The mean age of males and females with reproductive losses caused by additional copies of chromosomes 21 and 18 in embryos/fetuses was significantly higher compared to the mean age of males and females who have had in embryos/fetuses monosomy of chromosome X (p=0.014 and p=0.002, respectively for females) and (p=0.01 and p=0.001, respectively for males) was registrated. Reproductive losses were significantly often occured at the term of gestation more than 12 weeks when aneuploidy of chromosomes 21 and 18 were found in embryos/fetuses compared to monosomy of chromosome X was diagnosed at less than 12 weeks (р=0,005 і р=0,028, respectively). Fetuses with additional copies of chromosomes 21 and 18 were most frequently recorded at pregnancy of more than 12 weeks. Female gender prevailed among the abortions with chromosomal aneuploidy in proportion (2.2:1). In the karyotype of embryos/fetuses most often occured the additional copies of 21, 18 and 16 autosomes. Genital pathology was diagnosed in 13.33% of females with reproductive losses in the anamnesis. TORCH infections were confirmed in 15.56% of the patients. In 4.44% of the couples Robertsonian translocations were detected and in 2.22% of the couples pericentric inversion of chromosome 9 were found. Conclusions. It has been established that the spectrum of some chromosomal abnormalities in embryos/fetuses may depend with the age of the mother. Reproductive losses caused by the development of embryos/fetuses with additional copies of chromosomes 18 and 21 most often occured in older females and males. The age of females and males who have had embryos/fetuses with monosomy of chromosome X was the lowest (27,63±1,10 years in males and 26,63±1,40 years in females). TORCH infections are found in every seventh woman with reproductive losses, and in almost every sixth have confirmed pathology of the sexual sphere. Karyotyping of couples with reproductive losses makes identify individuals with an increased risk of aneuploidy development in offspring and help to give for them an adequate genetic care.
chromosome anomalies, embryos, fetuses, married couples, reproductive losses.
- Voronkova NM. Optimizatsiya vidnovlennia reproduktyvnoi funktsii zhinok iz zavmerloyu vahitnistyu v anamnezi ta patolohieyu endometriia [avtoreferat]. К.: 2018. 20 s. [in Ukrainian].
- Medvedeva OB. Mediko-sotsyalnye aspekty reproduktivnoho zdorov’ya sovremennych siemiey. Obshchestvennoie zdorov’ie i zdravochranienie. 2010;1:87-9. [in Russian].
- Tetruashvili N. Analiz prichin privychnych rannich potier bieriemiennosti. Vrach. 2008;8:54-7. [in Russian].
- Melnik EG. Faktory riska i etiologia nerazvivayushchejsia bieriemiennosti. Sib. Med. Zhur. 2010;4:36-8. [in Russian].
- Kacprzak M, Chrzanowska M, Skoczylas B, Moczulska H, Borowiec M, Sieroszewski P. Genetic causes of recurrent miscarriages. Ginekol Pol. 2016;87(10):722-6. DOI: 10.5603/GP.2016.0075
- Kochhar PK, Ghosh P. Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J Obstet Gynaecol Res. 2013;39(1):113-20. DOI: 10.1111/j.1447-0756.2012.01905
- Azim M, Khan AH, Khili ZL, Pal JA, Khurshid M. Chromosomal abnormalities as a cause of recurrent abortions: a hospital experience. J. Pak Med. Assoc. 2003;53(3):117-9.
- Sheth FJ, Liehr T, Kumari P, Akinde R, Sheth H, Sheth J. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study. Indian J Hum Genet. 2013;19(4):415-22.
- Trovó de Marqui A. Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis. Rev. Bras. Saude Mater. Infant. 2018;18(2). Available from: https://doi.org/10.1590/1806-93042018000200002
- Tavolkina LV, Baronova EV, Sopko NI. Naibolieje chastyje chromosomnyie anomalii v kariotipie patsyentov s reproduktivnymi problemami. Cytol Genet. 2007:48-55. [in Russian].
- El-Dahtory FA. Chromosomal abnormalities as a cause of recurrent abortions in Egypt. Indian J Hum Genet. 2011;17(2):82-4. DOI: 10.4103/0971-6866.86186
- Elghezal H, Hidar S, Mougou S, Khairi H, Saâd A. Prevalence of chromosomal abnormalities in couples with recurrent miscarriage. Fertil Steril. 2007;88(3):721-3.
- Blyth E. Guidelines for infertility counselling in different countries: Is there an emerging trend? Hum Reproduct. 2012;27:2046-57. Available from: https://doi.org/10.1093/humrep/des112
- An International System for Human Cytogenetic Nomenclature (ISCN-2016). Reprint of Cytogenetic and Genome Research. 2016;149(1-2).
- Kumar M, Thatai A, Chapadgaonkar SS. Homozygosity and heterozygosity of the pericentric inversion of chromosome 9 and its clinical impact. J Clin Diagn Res. 2012;6:816-20.
- Soler A, Morales C, Mademont-Soler I, Margarit E, Borrell A, Borobio V, et al. Overview of chromosome abnormalities in First trimester miscarriages: a series of 1,011 consecutive chorionic villi sample karyotypes. Cytogenetic and Genome Research. 2017;152:81-9. Available from: https://doi.org/10.1159/000477707
Publication of the article:
«Bulletin of problems biology and medicine» Issue 3 (157), 2020 year, 170-173 pages, index UDK 616-0.56.714-071.1+618.32/.33-007+618.39-021.3]:576.312.37